- Abetalipoproteinemia
- Achondrogenesis Type II
- Achondroplasia
- Alopecia (atrichia with papular lesions, APL)
- Alpha Thalassemia
- Alpha-1 Antitrypsin Deficiency
- Alport Syndrome
- Alzheimer's Disease, early onset
- Alzheimer's Disease, late onset
- Amyloidosis, familial type
- Aneurysms-osteoarthritis syndrome (AOS)
- Angelman Syndrome
- Aortic aneurysm, familial thoracic 3 (AAT3)
- Aortic aneurysm, familial thoracic 4 (AAT4)
- Aortic aneurysm, familial thoracic 5 (AAT5)
- Aortic aneurysm, familial thoracic 6 (AAT6)
- Aortic aneurysm, familial thoracic 7 (AAT7)
- Apert Syndrome
- Apolipoprotein A-I Deficiency
- Apolipoprotein B Deficiency
- Apolipoprotein C-II Deficiency
- Arrhythmogenic Right Ventricular Dysplasia (ARVD)
- Ataxia, episodic type 2 (EA2)
- Ataxias, spinocerebellar autosomal dominant
- Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy (APECED)
- Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- Azoospermia
- Beta Thalassemia
- Breast Cancer, familial
- Brugada Syndrome
- Bruton's Agammaglobulinemia
- Cardiofaciocutaneous Syndrome
- Cardiomyopathy, familial dilated form (DCM)
- Cardiomyopathy, familial hypertrophic form (HCM)
- Cardiomyopathy, familial restrictive form (RCM)
- Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
- Charcot-Marie-Tooth Neuropathy
- CHARGE Syndrome
- Chylomicronemia Syndrome
- Coffin-Lowry Syndrome
- Colon Carcinoma, familial, non-polypous (HNPCC)
- Congenital Adrenal Hyperplasia (CAH)
- Congenital Bilateral Aplasia Of The Vas Deferens
- Congenital Contractural Arachnodactyly
- Core Myopathies - RYR1-related Myopathies
- Costello Syndrome
- Craniosynostoses - Overview
- Creutzfeldt-Jakob Disease, familial Form
- Creutzfeldt-Jakob Disease, sporadic Form and new Variant
- Crigler-Najjar Syndrome
- Crohn’s Disease (Inflammatory Bowel Disease, IBD1)
- Crouzon Syndrome
- Cryopyrin-Associated Periodic Syndromes (CAPS)
- Cystic Fibrosis (CF)
- Dentatorubral-Pallidoluysian Atrophy
- DPD Deficiency
- Dravet Syndrome
- Dysbetalipoproteinemia
- Early Infantile Epileptic Encephalopathy (EIEE)
- Ehlers-Danlos Syndrome - Overview
- Ehlers-Danlos Syndrome classical Type
- Ehlers-Danlos Syndrome hypermobility Type (EDS type III)
- Ehlers-Danlos Syndrome vascular Type (EDS type IV)
- Ehlers-Danlos Syndrome kyphoscoliotic Type (EDS type VIA)
- Ehlers-Danlos Syndrome kyphoscoliotic Type (EDS type VIB)
- Ehlers-Danlos Syndrome Arthrochalasis Type (EDS type VIIA und VIIB)
- Ehlers-Danlos Syndrome dermatosparaxis Type (EDS type VIIC)
- Ehlers-Danlos Syndrome with Tenascin-X Deficiency
- Epilepsies
- Fabry's Disease
- Factor VII Deficiency
- Factor XIII Deficiency
- Familial Hemiplegic Migraine (FHM)
- Familial Mediterranean Fever (FMF)
- Familial Thoracic Aortic Aneurysm and Dissection (TAAD)
- Fish Eye Disease (FED) [E78.6]
- Fragile X Syndrome, FXPOI, FXTAS
- Friedreich's Ataxia
- Gaucher Disease
- Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
- Gerstmann-Sträussler-Scheinker Syndrome (GSSS)
- Glucose Transporter Type 1 Deficiency Syndrome
- Glucose-6-Phosphate Dehydrogenase Deficiency
- HDL Deficiency, primary
- Hearing Loss, autosomal recessive, non-syndromic
- Hearing Loss, drug-induced [T88.7]
- Hemochromatosis
- Hemophilia A
- Hemophilia B
- Hepatic Lipase Deficiency, familial
- Hereditary Neuropathy with Liability to Pressure Palsy
- HIV-1 Host Resistance
- HNF1B-associated Anomalies of the Kidney and the Urinary Tract (CAKUT)
- Huntington's Disease
- Hypercholesterolemia, familial
- Hyperoxaluria, primary, type 1
- Hypobetalipoproteinemia, familial
- Hypochondrogenesis
- Hypochondroplasia
- Hypokalemic Periodic Paralysis (HypoPP)
- Joubert Syndrome
- Juvenile Polyposis Syndrome (JPS)
- Kabuki Syndrome
- Kniest Syndrome
- LCAT Deficiency
- Legius Syndrome
- LEOPARD Syndrome
- Léri-Weill Dyschondrosteosis, Langer Mesomelic Dysplasia
- Li-Fraumeni Syndrome (LFS)
- Lipoprotein Lipase (LPL-) Deficiency
- Loeys-Dietz Syndrome
- Loeys-Dietz Syndrome Type 4
- Long QT-Syndrome (LQTS)
- Macula Degeneration, age-related
- Malignant Melanoma, familial form type2 (CMM2)
- Marfan Syndrome (MFS)
- Marfan Syndrome Type 2 (MFS2)
- Marshall Syndrome
- Meckel-Gruber Syndrome
- MECP2 Duplication Syndrome
- MCAD Deficiency
- Metaphyseal Chondrodysplasia Schmid Type (MCDS)
- Methylmalonic Acidemia/Aciduria, Vitamin B12 resistant
- Meulengracht (Gilbert) Syndrome
- Microcephalies, primary autosomal recessive
- MODY Diabetes
- MODY Diabetes Multi-Gene Panel Testing
- Mowat-Wilson Syndrome (MWS)
- MTHFR Deficiency
- Muenke Syndrome
- Multiple Endocrine Neoplasia Type 2A and B (MEN2)
- Muscular Dystrophy Duchenne / Becker
- Myotonic Dystrophy Type 1 (Curschmann-Steinert Disease)
- Nephrogenic Diabetes Insipidus
- Nephronophthisis (NPHP)
- Nephrotic Syndrome (NS)
- Neurofibromatosis Type 1 (NF1)
- Neurofibromatosis-Noonan Syndrome (NF/NS)
- Noonan Syndrome (NS)
- Noonan-like Syndrome With Loose Anagen Hair
- Noonan-Like Syndrome With Or Without Juvenile Myelomonocytic Leukemia (CBL Mutation-Associated Syndrome)
- Osteogenesis imperfecta (OI)
- Osteoporosis, postmenopausal form
- Otospondylomegaepiphyseal Dysplasia (OSMED)
- Pancreatitis
- Peutz-Jeghers Syndrome (PJS)
- Pfeiffer Syndrome
- Phenylketonuria (PKU), Hyperphenylalaninemia (HPA)
- Pitt-Hopkins Syndrome (PTHS)
- Polyposis Coli, familial adenomatous polyposis (FAP) / MUTYH associated polyposis (MAP)
- Pompe Disease
- Porphyrias
- Prader-Willi Syndrome (PWS)
- Propionic Acidemia
- Protein C Deficiency, hereditary
- Protein S Deficiency, hereditary
- Pulmonary Arterial Hypertension (PAH)
- Pyridoxine-dependent Epilepsy (PDE)
- RASopathies (Neuro-Cardio-Facial-Cutaneous Syndromes) - Overview
- Rett Syndrome (RTT)
- Rett Syndrome, atypical; Early Infantile Epileptic Encephalopathy-2 (EIEE2)
- Saethre-Chotzen Syndrome (SCS)
- Sickle Cell Anemia (SA)
- Silver-Russell Syndrome (SRS)
- Smith-Lemli-Opitz Syndrome
- Sotos Syndrome
- Spherocytosis
- Spinal Muscular Atrophy, Type I – III (IV) (SMA1,2,3,4)
- Spinobulbar Muscular Atrophy (SBMA, Kennedy’s Disease)
- Spondyloepiphyseal Dysplasia (SED)
- Stickler Syndrome
- Tangier Disease (TGD)
- Thanatophoric Dysplasia (TD)
- Thin basement membrane nephropathy (TBMN)
- Thrombophilia
- TNF Receptor-1 Associated Periodic Syndrome (TRAPS)
- Tuberous Sclerosis (TSC)
- Tyrosinemia Type I
- Uniparental Disomy (UPD)
- Usher Syndrome
- Von Willebrand Disease (VWS)
- Wagner Syndrome (WGN1)
- Wilson‘s Disease (WND)
- Wiskott-Aldrich Syndrome (WAS)
- X-Linked Lymphoproliferative Syndrome (XLP1)
